Associated Papers
Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.
Suh YA et al.
Frontiers in Pediatrics, 2024
Schimke XLID syndrome results from a deletion in BCAP31.
Louie RJ et al.
American Journal of Medical Genetics. Part A, 2020
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Cacciagli P et al.
American Journal of Human Genetics, 2013
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